Canonical Allele Identifier: CA2673572743
Gene: NIPBL-DT HGNC NCBI

Linked Data

gnomAD v4: 5-36876633-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876633G>A , CM000667.2:g.36876633G>A GRCh38
NC_000005.9:g.36876735G>A , CM000667.1:g.36876735G>A GRCh37
NC_000005.8:g.36912492G>A NCBI36
NG_006987.1:g.4751G>A
NG_006987.2:g.4751G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.62C>T